Compound heterozygosity
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations). Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders; mutations in most disease-causing genes have arisen many times. This means that many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes, but both the alleles are defective.
ANNOVAR1,2-dimethoxyethaanAutosomal recessive polycystic kidney diseaseBeta thalassemiaCerebroretinal microangiopathy with calcifications and cystsCompound heterozygoteCompound heterozygotesCompound heterozygousCongenital adrenal hyperplasia due to 21-hydroxylase deficiencyCopper in healthD-glycerate dehydrogenase deficiencyDonohue syndromeDopamine transporter deficiency syndromeFANCAFrataxinGM2-gangliosidosis, AB variantGM2AGTPBP3Generalized arterial calcification of infancyGenetic compoundGenetic compoundsHereditary elliptocytosisHereditary haemochromatosisHypodysfibrinogenemiaHypophosphatasiaHypotrichosis with juvenile macular dystrophyIFT140Jalili syndromeLeigh syndromeLipoprotein lipase deficiencyMUTYH-associated polyposisMutationNeu–Laxova syndromeOculocutaneous albinism type IOrganoidPantothenate kinase-associated neurodegenerationPhenylketonuriaPhosphoglycerate dehydrogenase1,2-dimethoxyethaanPyruvate kinase deficiency
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Compound heterozygosity
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations). Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders; mutations in most disease-causing genes have arisen many times. This means that many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes, but both the alleles are defective.
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In medical genetics, compound ...... identify polymorphic alleles.
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Komplexe Heterozygotie ist ein ...... 7 (siehe auch ΔF508-Mutation).
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In medical genetics, compound ...... oth the alleles are defective.
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Komplexe Heterozygotie ist ein ...... eine Ringstruktur, bei der sic
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Compound heterozygosity
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Komplexe Heterozygotie
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